9q31.1-q31.3CNV Type: N/A
Largest CNV size: 6732869 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Paternally-inherited CNV identified in a case with developmental delay/intellectual disability (Girirajan et al., 2012)
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
NA
Minor Reports
Title
Author, Year
Report Class
CNV Type
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
6732869
NA
NA
1
verberne_22_ASD/DD/ID_discovery_cases
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
331
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
8462053
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
6732869
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
girirajan_12_ASD/DD/ID_discovery_cases-case42977
NA
M
Developmental delay
NA
NA
104156578
110889448
6732871
GRCh38
NA
Yes
verberne_22_ASD/DD/ID_discovery_cases-case300
NA
F
Developmental delay
Speech and language delay, short stature, obesity, facial dysmorphism
103141916
111603968
8462053
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_12_ASD/DD/ID_discovery_cases-case42977
FISH, aCGH, or confirmation by inheritance
Paternal (inversion carrier)
Unknown
Unknown
OR13F1,OR13C4,OR13C3,OR13C8,OR13D2P,OR13C5,OR13C2,OR13C9,OR13I1P,OR13C1P,OR13D1,OR13D3P,RN7SKP191,RALGAPA1P1,TAL2,SLC25A6P5,MIR8081,RN7SKP77,RNA5SP292,HMGN2P32,RNU6-492P,KLF4,PPIAP88,RNU6-996P,RNU6-1064P,RN7SL659P,RPL36AP6,RNA5SP293,RPS15AP27,CHCHD4P2,RPL36AP35,ACTL7A,MIR32,RNU6-984P,MTND2P11,MIR3927,YBX1P6,RNU6-1039P,TOPORSLP,NIPSNAP3A,NIPSNAP3B,FKTN,RAD23B,LINC01509,ACTL7B,FAM206A,CTNNAL1,FRRS1L,C9orf152,TXN,TXNDC8,SLC44A1,FSD1L,TMEM38B,LINC01505,ELP1,EPB41L4B,PTPN3,PALM2,SVEP1,MUSK,LPAR1,ABCA1,ZNF462,PALM2-AKAP2,AKAP2,TMEM245
verberne_22_ASD/DD/ID_discovery_cases-case300
Unknown
ABCA1,FKTN,LPAR1,EPB41L4B,NIPSNAP3B,ABITRAM,TMEM38B,ZNF462,OR13I1P,SVEP1,FSD1L,OR13C8,OR13C5,OR13F1,OR13C3,OR13C4,ZNF483,TXNDC8,OR13D1,OR13C9,TOPORSLP,OR13C1P,OR13C2,OR13D2P,YBX1P6,C9orf152,OR13D3P,MIR32,PALM2AKAP2,RPL36AP6,LRRC37A5P,DEPDC1P2,SLC25A6P5,CHCHD4P2,MUSK,RPS15AP27,RPL36AP35,RNY4P18,MIR3927,RNA5SP294,RNA5SP292,RNA5SP291,RNA5SP293,MTND2P11,HMGN2P32,LINC01505,RAD23B,PTPN3,SMC2-DT,LINC01492,LINC01509,MIR8081,MIR7702,RN7SKP77,TXN,TAL2,RNU6-432P,RN7SL659P,RN7SKP191,RNU6-492P,RNU6-996P,RNU6-1064P,RNU6-1039P,RNU6-984P,CT70,PPIAP88,ELP1,CTNNAL1,KLF4,ACTL7B,SMC2,ACTL7A,FRRS1L,SLC44A1,TMEM245,OR2K2,NIPSNAP3A,PTGR1,RALGAPA1P1,ECPAS
Controls
No Control Data Available
No Animal Model Data Available